Annotation Detail
Information
- Associated Genes
- ABCA4
- Associated Variants
-
ABCA4 p.Asn933Ile (p.N933I)
(
ENST00000370225.4,
ENST00000649773.1 )
ABCA4 p.Asn933Ile (p.N933I) ( ENST00000370225.4, ENST00000649773.1 ) - Associated Disease
- Severe early-childhood-onset retinal dystrophy
- Source Database
- ClinVar
- Description
- NM_000350.3(ABCA4):c.2798A>T (p.Asn933Ile) AND Severe early-childhood-onset retinal dystrophy
- ClinVar Allele ID
- 152792
- ClinVar RefSeq Alternation Syntax
- NM_001425324.1:c.2576A>T
- ClinVar RefSeq Alternation Syntax
- NM_000350.3:c.2798A>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000132589
- ClinVar Disease
- Severe early-childhood-onset retinal dystrophy
- Observed Origin Sample
- not provided
Drugs